Varaico: Literature-Extracted Genetic Variants

Gene:THRB
Variant:p.G347A
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THRB

NM_001354712.2:p.G347A

Associated Papers

Effects of Resmetirom on Resistance to Thyroid Hormone Receptor Mutants: Potential Basis for Therapeutic Applications.

Mitsutani M et al.

Biological & Pharmaceutical Bulletin, 2025

Bezafibrate induces hypothyroidism in a patient with resistance to thyroid hormone β due to a G347R variant.

Yamauchi I et al.

Clinical Endocrinology, 2022

Mutational Landscape of Resistance to Thyroid Hormone Beta (RTHβ).

Concolino P et al.

Molecular Diagnosis & Therapy, 2019

Utility and limitations of exome sequencing as a genetic diagnostic tool for children with hearing loss.

Sheppard S et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018

29907799 (PubMed )
Supplement: 41436_2018_4_MOESM3_ESM.xlsx › variant-_capture___coverage

Evaluation of thyroid hormone action in a case of generalized resistance to thyroid hormone with chronic thyroiditis: discovery of a novel heterozygous missense mutation (G347A).

Sato H et al.

Endocrine Journal, 2007

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."